FamilyLabel: Kelsell_1998_CORD6_Family

Family#PresentingHPOs: HP:0000548 (Cone/cone-rod dystrophy), HP:0007663 (Reduced visual acuity), HP:0007994 (Peripheral visual field loss), HP:0000613 (Photophobia), HP:0011504 (Bull's eye maculopathy), HP:0030465 (Undetectable light-adapted electroretinogram), HP:0030469 (Abnormal dark-adapted electroretinogram)

Family#PresentingHPOFreeText: Central vision was lost before age 7, while peripheral field vision was lost by the fourth decade of life. Cone ERG was undetectable early on in the disease, while rod ERG abnormalities later developed progressively.

FamilyNotHPOs: N/A

CountryOrigin: British

Ethnicity: N/A

Race: N/A

Family#PreviousTesting: In a previous publication (PMID: 9097965), the family was subjected to (genome-wide) linkage analysis mapping the affected phenotype to chromosome 17p12-p13. The LOD score associated with marker locus D17S1844 was 5.93 (with no recombination).

Family#Method1: Sanger sequencing of PCR products from each of the 18 exons of the GUCY2D locus

Family#Method2: HhaI restriction digest of the PCR-amplified exon 13

Family#GenotypingMethod: 10 unspecified affected and some unaffected family members were subjected to sequencing of PCR products from each of the 18 exons of the GUCY2D locus. For each affected and unaffected family member, the PCR-amplified product from exon 13 was subjected to HhaI restriction digest and resolved by agarose gel electrophoresis.

Affected: 14

Unaffected: 19

Segregations: 13 (no consanguinity mentioned), Figures 1A and 1B

PublishedLOD: 5.93 (PMID: 9097965)

eLOD: 4.2

AddSegregationInfo: All segregations were consistent with the proposed gene-disease association and complete penetrance.

ProbandLabel: Kelsell_1998_CORD6_Family_Proband_2

Variant: NM_000180.3(GUCY2D):c.[2511G>C;2512C>A]

ClinVar: 453243

gnomAD: The variant was not found in gnomAD.

FamilyAddInfo: The family's variant was not comprehensively genotyped in this publication but was later identified in PMID: 10647719.

FamilyPMIDs: PMID: 9097965, PMID: 10647719